Gene Symbol | NPHP4 |
Entrez Gene ID | 261734 |
Full Name | nephrocystin 4 |
Synonyms | POC10,SLSN4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]. |
Disorder MIM: | |
Disorder Html: | Nephronophthisis 4, 606966 (3); Senior-Loken syndrome 4, 606996 (3) |